ClinVar Miner

List of variants reported as benign for Leigh syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_001303.3(COX10):c.-112G>A rs6502330 0.99477
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_020354.5(ENTPD7):c.*5165G>A rs2300983 0.83937
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411 0.70392
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_174889.4(NDUFAF2):c.-97A>G rs158922 0.66969
NM_000108.5(DLD):c.*487C>T rs4518 0.66588
NM_000108.5(DLD):c.*978T>C rs2158835 0.66205
NM_000108.5(DLD):c.*1451T>C rs2108223 0.66202
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65985
NM_000108.5(DLD):c.*207G>A rs4564 0.65906
NM_002291.3(LAMB1):c.5225-7C>T rs3213673 0.64814
NM_133259.4(LRPPRC):c.*1665C>T rs1139250 0.63748
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_004544.4(NDUFA10):c.*3450G>A rs7573892 0.59554
NM_001303.4(COX10):c.699A>G (p.Pro233=) rs2230354 0.55696
NM_004544.4(NDUFA10):c.*1957G>A rs4854069 0.55325
NM_015960.3(CUTC):c.61+237T>G rs2281636 0.54611
NM_015960.3(CUTC):c.61+75G>A rs2231675 0.54408
NM_001303.4(COX10):c.504G>A (p.Leu168=) rs2159132 0.53492
NM_005006.7(NDUFS1):c.*336G>T rs1044120 0.52989
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279 0.48875
NM_004589.4(SCO1):c.*722C>G rs7512 0.46449
NM_002495.4(NDUFS4):c.*46G>A rs567 0.42121
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848 0.38961
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_000108.5(DLD):c.*1688G>A rs8440 0.31157
NM_004544.4(NDUFA10):c.*1189C>T rs66534347 0.30437
NM_004544.4(NDUFA10):c.*414G>A rs13424612 0.28510
NM_004544.4(NDUFA10):c.*3204C>T rs34277046 0.28460
NM_078470.6(COX15):c.*2649G>A rs1128642 0.27557
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_001303.4(COX10):c.*1385C>T rs1050223 0.26244
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949 0.26134
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.25190
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070 0.25187
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.25174
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424 0.25161
NM_001303.4(COX10):c.*1078C>T rs13183 0.23332
NM_001303.4(COX10):c.*297G>A rs8076247 0.23328
NM_001303.4(COX10):c.*371A>G rs11078234 0.18397
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.18133
NM_001303.4(COX10):c.*1076T>C rs1050216 0.17502
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) rs35843327 0.15996
NM_001303.4(COX10):c.*757T>C rs1802618 0.15929
NM_001303.4(COX10):c.*322T>C rs11078233 0.15800
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494 0.11689
NM_004544.4(NDUFA10):c.*308C>T rs8369 0.11658
NM_004544.4(NDUFA10):c.*2309G>A rs1132778 0.11433
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_004544.4(NDUFA10):c.*2602C>T rs58261980 0.10946
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.10356
NM_133259.4(LRPPRC):c.3900+14C>T rs3795859 0.10271
NM_078470.6(COX15):c.*3417T>C rs10883407 0.09903
NM_133259.4(LRPPRC):c.3900+15C>T rs76850904 0.09620
NM_020354.5(ENTPD7):c.*5463T>G rs1056844 0.09586
NM_133259.4(LRPPRC):c.*556A>T rs1136998 0.07663
NM_001303.4(COX10):c.184A>T (p.Thr62Ser) rs2230351 0.06303
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_133259.3(LRPPRC):c.-45G>A rs11124961 0.05742
NM_003172.4(SURF1):c.*118T>C rs4962133 0.05734
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670 0.05713
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522 0.05607
NM_024407.5(NDUFS7):c.408+10G>T rs2074896 0.05515
NM_001303.4(COX10):c.33C>T (p.Arg11=) rs8076787 0.05496
NM_004589.4(SCO1):c.172C>T (p.Pro58Ser) rs1802083 0.05390
NM_004544.4(NDUFA10):c.*631C>T rs10933622 0.05326
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859 0.05117
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187 0.05020
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_004589.4(SCO1):c.*310C>T rs2662957 0.04323
NM_004589.4(SCO1):c.*272T>C rs2662956 0.04198
NM_004589.4(SCO1):c.594A>G (p.Pro198=) rs2271228 0.04192
NM_001303.4(COX10):c.928+12G>A rs200573622 0.04100
NM_007103.4(NDUFV1):c.-66G>A rs73490568 0.04056
NM_004544.4(NDUFA10):c.*3075T>G rs7588974 0.03737
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) rs113012830 0.03541
NM_005006.7(NDUFS1):c.*733A>G rs6707707 0.03241
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677 0.02888
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761 0.02876
NM_001303.4(COX10):c.1038G>A (p.Ser346=) rs2230355 0.02804
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_005006.7(NDUFS1):c.*158T>C rs3770989 0.02543
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971 0.02459
NM_001303.4(COX10):c.-63C>T rs77877576 0.02405
NM_004544.4(NDUFA10):c.*3349G>A rs77216981 0.02367
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_001303.4(COX10):c.83C>T (p.Thr28Ile) rs16948978 0.01976
NM_133259.4(LRPPRC):c.*2176A>T rs73924082 0.01948
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668 0.01872
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573 0.01828
NM_133259.4(LRPPRC):c.*825A>G rs17031753 0.01776
NM_001303.4(COX10):c.*438G>C rs75823746 0.01767
NM_133259.4(LRPPRC):c.*1088G>C rs79225555 0.01767
NM_001303.4(COX10):c.*974C>A rs2071245 0.01762
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) rs16948986 0.01758
NM_005006.7(NDUFS1):c.*399G>A rs77000728 0.01727
NM_001303.4(COX10):c.*1101C>T rs75165393 0.01548
NM_002496.4(NDUFS8):c.-45A>C rs4147776 0.01538
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044 0.01515
NM_004544.4(NDUFA10):c.*2511C>T rs74540213 0.01512
NM_004168.4(SDHA):c.-4A>G rs377134185 0.01501
NM_000108.5(DLD):c.*855C>T rs116055514 0.01464
NM_133259.4(LRPPRC):c.*1371C>T rs111381413 0.01377
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538 0.01372
NM_004589.4(SCO1):c.297A>G (p.Ala99=) rs11538237 0.01326
NM_004544.4(NDUFA10):c.*396C>G rs73103629 0.01256
NM_004544.4(NDUFA10):c.*1217A>G rs116403651 0.01210
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_004544.4(NDUFA10):c.*2133A>G rs6736791 0.01130
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391 0.01114
NM_004544.4(NDUFA10):c.*1878C>T rs80067639 0.01081
NM_001303.4(COX10):c.*1079G>A rs116445114 0.01056
NM_004544.4(NDUFA10):c.*3544C>T rs114944621 0.01013
NM_005006.7(NDUFS1):c.*574T>G rs73065790 0.01005
NM_000108.5(DLD):c.*648G>A rs57801571 0.00985
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315 0.00985
NM_133259.4(LRPPRC):c.*1343G>C rs75002669 0.00947
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_000108.5(DLD):c.*1300A>G rs77095705 0.00939
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser) rs35715497 0.00925
NM_004544.4(NDUFA10):c.*407C>T rs74614612 0.00847
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_133259.4(LRPPRC):c.*734A>G rs114517881 0.00810
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946 0.00727
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306 0.00596
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=) rs191388646 0.00585
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_000108.5(DLD):c.*1074C>G rs149275540 0.00531
NM_004168.4(SDHA):c.*249T>C rs189989110 0.00459
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) rs115693730 0.00414
NM_133259.4(LRPPRC):c.*1335T>C rs76970610 0.00348
NM_001303.4(COX10):c.*1324C>T rs75636595 0.00341
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887 0.00295
NM_004544.4(NDUFA10):c.*1382C>T rs111337344 0.00263
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347 0.00249
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098 0.00180
NM_007103.4(NDUFV1):c.*79C>T rs76839099 0.00124
NM_004544.4(NDUFA10):c.*2202C>T rs77614498 0.00120
NM_004544.4(NDUFA10):c.*2495C>T rs78395168 0.00119
NM_003172.4(SURF1):c.54+9C>G rs587675928 0.00066
NM_133259.4(LRPPRC):c.-11A>G rs188424940 0.00066
NM_005006.7(NDUFS1):c.-64T>C rs145023130 0.00023
NM_078470.6(COX15):c.664C>T (p.Arg222Cys) rs2231682 0.00021
NM_005006.7(NDUFS1):c.1393-7T>A rs200409285 0.00018
NM_000108.5(DLD):c.*470G>T rs111619940
NM_000108.5(DLD):c.*947G>T rs7777259
NM_001303.4(COX10):c.*151_*152del rs200239586
NM_001303.4(COX10):c.*646C>A rs7214082
NM_001303.4(COX10):c.*831CT[1] rs397763766
NM_002495.4(NDUFS4):c.-6A>T rs73754255
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_003172.2(SURF1):c.-37C>T rs523304
NM_004168.4(SDHA):c.1974G>C (p.Pro658=) rs1042446
NM_004168.4(SDHA):c.771-11A>G rs2288461
NM_004544.4(NDUFA10):c.*1229C>G rs55998047
NM_004544.4(NDUFA10):c.*438C>T rs13396556
NM_004589.4(SCO1):c.*320= rs2040570
NM_005006.7(NDUFS1):c.*457T>A rs4147728
NM_005006.7(NDUFS1):c.*53T>G rs116335919
NM_005006.7(NDUFS1):c.-47C>G rs4147707
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_133259.4(LRPPRC):c.*2041C>T rs7581308
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp) rs571886021
NM_133259.4(LRPPRC):c.1677+11C>G rs58811869

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